Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35423 | chr19 | 4054974 | CGGT | C |
c.256_258del
|
p.Thr86del
|
- | 3.0 |
|
B | |
| 35424 | chr19 | 4054980 | GCGCCTCGGC | G |
c.244_252del
|
p.Ala82_Ala84del
|
- | 3.0 |
|
B | |
| 17170 | chr19 | 4055132 | C | T |
c.101G>A
|
p.Cys34Tyr
|
- | 3.0 |
|
B | |
| 13124 | chr19 | 4055186 | T | C |
c.47A>G
|
p.His16Arg
|
- | 3.0 |
|
B | |
| 11892 | chr19 | 4090709 | C | T |
c.1093-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 16998 | chr19 | 4094438 | G | A |
c.1092+15C>T
|
-
|
2.0 |
|
B | ||
| 20768 | chr19 | 4094450 | C | G |
c.1092+3G>C
|
-
|
- | 3.0 |
|
B | |
| 17633 | chr19 | 4094516 | C | G |
c.1047-18G>C
|
-
|
- | 3.0 |
|
B | |
| 3005 | chr19 | 4097325 | C | T |
c.938G>A
|
p.Arg313Gln
|
3.0 |
|
B | ||
| 22954 | chr19 | 4097357 | G | A |
c.920-14C>T
|
-
|
2.0 |
|
B | ||
| 21661 | chr19 | 4099231 | G | A |
c.889C>T
|
p.Arg297Trp
|
2.0 |
|
B | ||
| 20422 | chr19 | 4101038 | C | T |
c.686G>A
|
p.Gly229Asp
|
- | 3.0 |
|
B | |
| 32640 | chr19 | 4101103 | C | A |
c.621G>T
|
p.Glu207Asp
|
- | 3.0 |
|
B | |
| 1150 | chr19 | 4101105 | C | T |
c.619G>A
|
p.Glu207Lys
|
3.5 |
|
B | ||
| 13347 | chr19 | 4101294 | C | T |
c.529-14G>A
|
-
|
2.0 |
|
B | ||
| 26750 | chr19 | 4110556 | C | T |
c.403G>A
|
p.Gly135Arg
|
3.0 |
|
B | ||
| 20859 | chr19 | 4110559 | A | G |
c.400T>C
|
p.Tyr134His
|
4.0 |
|
B | ||
| 10047 | chr19 | 4110576 | G | T |
c.383C>A
|
p.Pro128Gln
|
4.0 |
|
B | ||
| 29270 | chr19 | 4117411 | G | C |
c.303+8C>G
|
-
|
2.0 |
|
B | ||
| 8231 | chr19 | 4117539 | T | G |
c.183A>C
|
p.Lys61Asn
|
4.0 |
|
B |